Variant report

Variant	rs11158597
Chromosome Location	chr14:65913536-65913537
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65913368..65916336-chr14:65927007..65928955,2	K562	blood:
2	chr14:65913215..65915325-chr17:59660690..59662485,2	MCF-7	breast:
3	chr14:65912946..65915806-chr14:65916268..65918794,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1009465	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10135969	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10136752	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10142283	0.83[YRI][hapmap]
rs10144979	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10145146	0.81[AFR][1000 genomes]
rs10150412	0.90[AFR][1000 genomes]
rs10152007	0.84[YRI][hapmap]
rs10467734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10873191	1.00[YRI][hapmap]
rs10873192	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1113962	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11158595	1.00[YRI][hapmap]
rs11158603	1.00[YRI][hapmap]
rs11622767	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11844682	0.82[AFR][1000 genomes]
rs11848209	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12433597	1.00[YRI][hapmap]
rs1889731	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1953415	0.82[AFR][1000 genomes]
rs1953418	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1956008	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1956009	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1959144	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2180299	0.87[EUR][1000 genomes]
rs2184601	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2210805	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2268956	1.00[YRI][hapmap]
rs2411354	1.00[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2411356	0.83[YRI][hapmap]
rs2411815	1.00[YRI][hapmap]
rs2411820	0.86[AFR][1000 genomes]
rs2898814	1.00[YRI][hapmap]
rs2898816	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2898818	1.00[YRI][hapmap]
rs2898820	0.80[AFR][1000 genomes]
rs3825639	1.00[YRI][hapmap]
rs4902399	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4902404	1.00[YRI][hapmap]
rs4902408	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61987993	0.81[AFR][1000 genomes]
rs6573612	0.86[AFR][1000 genomes]
rs6573614	0.82[AFR][1000 genomes]
rs6573616	1.00[YRI][hapmap]
rs6573619	0.87[YRI][hapmap]
rs7140341	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs7140695	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7141367	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7141536	1.00[YRI][hapmap]
rs7143318	0.82[AFR][1000 genomes]
rs7144345	1.00[YRI][hapmap]
rs7145759	0.95[YRI][hapmap]
rs7146993	1.00[YRI][hapmap]
rs7147002	0.91[YRI][hapmap]
rs7147624	0.89[EUR][1000 genomes]
rs7150094	0.86[AFR][1000 genomes]
rs7150448	1.00[YRI][hapmap]
rs7151148	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7153497	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7157109	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7158153	0.88[YRI][hapmap]
rs7160390	1.00[CEU][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7160780	0.81[YRI][hapmap]
rs8003464	0.90[AFR][1000 genomes]
rs8007497	0.82[YRI][hapmap]
rs8010558	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8010726	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs8017880	0.90[AFR][1000 genomes]
rs8019762	1.00[YRI][hapmap]
rs9323460	0.86[AFR][1000 genomes]
rs9323461	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:65893000-65917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:65897000-65925600	Weak transcription	Aorta	Aorta
4	chr14:65898400-65935600	Weak transcription	Gastric	stomach
5	chr14:65899600-65929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:65899800-65917600	Weak transcription	Thymus	Thymus
7	chr14:65900000-65917400	Weak transcription	Fetal Thymus	thymus
8	chr14:65901200-65917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:65901200-65920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:65901800-65917600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:65901800-65920200	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:65902200-65927000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:65902400-65928400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:65903000-65917800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:65903200-65917600	Weak transcription	Fetal Stomach	stomach
16	chr14:65903200-65922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:65903200-65925200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:65905000-65917600	Weak transcription	Brain Germinal Matrix	brain
19	chr14:65905600-65916200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:65905600-65918000	Weak transcription	Primary T cells from cord blood	blood
21	chr14:65905800-65918000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:65905800-65936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:65906000-65913600	Weak transcription	Brain Angular Gyrus	brain
24	chr14:65906000-65923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:65906000-65926800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:65906200-65919800	Weak transcription	Ovary	ovary
27	chr14:65906200-65922000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:65906600-65922800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:65907000-65920400	Weak transcription	K562	blood
30	chr14:65910000-65913600	Weak transcription	Small Intestine	intestine
31	chr14:65910600-65913600	Weak transcription	Left Ventricle	heart
32	chr14:65911000-65915600	Strong transcription	Dnd41	blood
33	chr14:65911200-65917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:65912000-65913600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:65912200-65913800	Enhancers	HUVEC	blood vessel
37	chr14:65912200-65916000	Strong transcription	GM12878-XiMat	blood
38	chr14:65912200-65917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:65912200-65917600	Weak transcription	Fetal Intestine Small	intestine
40	chr14:65912200-65917800	Weak transcription	Fetal Intestine Large	intestine
41	chr14:65912200-65922400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:65912400-65917600	Weak transcription	Primary B cells from cord blood	blood
43	chr14:65912600-65913600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr14:65912600-65913600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr14:65912800-65913600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:65912800-65913800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:65912800-65913800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:65913000-65913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:65913000-65913800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:65913000-65913800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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